ClinVar Miner

Variants studied for Li-Fraumeni syndrome 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign established risk allele not provided total
9 16 15 0 0 1 1 38

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance established risk allele not provided total
CHEK2 9 16 15 1 1 38

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance established risk allele not provided total
Baylor Genetics 0 3 8 0 0 11
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 3 3 0 0 8
Department of Genetics, HCU Lozano Blesa 0 5 2 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 0 0 0 3
OMIM 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 1 0 0 0 1

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